Canonical Allele Identifier: CA359591522
Gene: C7 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.40964872G>T , CM000667.2:g.40964872G>T GRCh38
NC_000005.9:g.40964974G>T , CM000667.1:g.40964974G>T GRCh37
NC_000005.8:g.41000731G>T NCBI36
NG_011692.1:g.60376G>T , LRG_30:g.60376G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000486779.2:n.673G>T
ENST00000696333.1:c.1881G>T ENSP00000512566.1:p.Gln627His
ENST00000696441.1:c.1881G>T ENSP00000512631.1:p.Gln627His
ENST00000706664.1:n.1995G>T
ENST00000706666.1:n.1957G>T
ENST00000706667.1:n.2771G>T
ENST00000706668.1:n.2609G>T
ENST00000313164.10:c.1881G>T MANE Select ENSP00000322061.9:p.Gln627His
ENST00000313164.9:c.1881G>T ENSP00000322061.9:p.Gln627His
ENST00000486779.1:n.394G>T
NM_000587.2:c.1881G>T , LRG_30t1:c.1881G>T NP_000578.2:p.Gln627His
XM_011514122.1:c.1881G>T XP_011512424.1:p.Gln627His
NM_000587.3:c.1881G>T NP_000578.2:p.Gln627His
NM_000587.4:c.1881G>T MANE Select NP_000578.2:p.Gln627His